Tetraploid partial hydatidiform moles:a clinicopathological analysis of two cases and review of literature
LI Mei-qing
YANG Yi-bin
ZHOU Qiao-rong
ZHENG Liang-kai
Abstract：Objective To explore the clinical features,morphological characteristics,pathogenesis,and clinical management strategies of tetraploid partial hydatidiform moles.Methods Two cases of tetraploid partial hydatidiform moles were collected.Clinical features,pathological morphology,immunohistochemical phenotypes,and molecular genetic mechanisms were analyzed,and relevant literature was reviewed.Results The two female patients were aged 28 and 30 years,experiencing early pregnancy loss.In case 1,ultrasound revealed no embryo in the gestational sac,with scattered multiple anechoic areas around the gestational sac.In case 2,ultrasound showed a small embryo in the gestational sac without visible cardiac activity.Macroscopic examination revealed the presence of vesicular villi in case 1,with a maximum diameter of 0.1-0.3 cm,while no vesicular villi were observed in case 2.Microscopic examination of both cases showed villi of varying sizes with irregular shapes,villus with variable degrees of stromal edema and central cistern formation,trophoblastic mild hyperplasia with inconspicuous cellular atypia,cellular villous stroma,the presence of cell karyorrhectic debris and trophoblastic inclusion in villous stroma.Fibrosis of the villous stroma was not observed,and no erythrocytoblast or embryonic components were seen.In case 1,linear mineral deposits were observed beneath the basal membrane of trophoblastic cells.In case 2,the cellular myxoid stroma was observed.Immunohistochemically,both were positive for p57,with positivity rates ranging from 10％to 40％and 10％to 50％,respectively.The Ki-67 positivity rates were relatively high at 60％-80％and 60％-90％.STR gene typing confirmed tetraploid partial hydatidiform moles,with a paternal-to-maternal allele ratio of 3∶1.Paternal alleles were derived from two sperm,one of which underwent duplication within the zygote.Sex chromosome FISH testing revealed XXYY and XXXX karyotype.After undergoing dilation and curettage(D&C)procedures,the two cases were followed up for 1 year and 10 months,respectively,and did not demonstrate persistent gestational trophoblastic disease.Conclusion Tetraploid partial hydatidiform moles are relatively rare,and their clinical pathological features are atypical.The diagnosis relies on STR genotyping.
Keywords：TetraploidPartial hydatidiform moleShort tandem repeatGene typingPersistent gestational trophoblastic disease
Publication Date：2025-01-27
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 49-53 )